Severe reflux esophagitis and multiple congenital defects: A case report

Area of Science:

• Gastroenterology
• Pediatric Surgery
• Medical Genetics

Background:

• Gastroesophageal reflux disease (GERD) is a prevalent condition.
• This report details a rare instance of GERD attributed to ectopic biliary drainage, coupled with the absence of a pyloric channel and duodenal bulb.

Observation:

• A 24-year-old female presented with symptoms of acid regurgitation and abdominal pain.
• Diagnostic procedures revealed class D reflux esophagitis, an ectopic papilla, and the absence of a pyloric channel and duodenal bulb.
• Co-occurring congenital defects included atrial and ventricular septal defects.

Findings:

• The patient received proton pump inhibitors, prokinetic agents, and surgical repair for septal defects.
• Symptoms significantly improved post-intervention, with the patient remaining stable during follow-up.
• Whole exome sequencing did not identify any significant pathogenic mutations associated with the observed malformations.

Implications:

• The anatomical anomaly of an absent pylorus and ectopic papilla represents a rare etiology for reflux esophagitis.
• Congenital gastrointestinal variations can be associated with other systemic malformations.
• While genetic mutations were not identified, advanced sequencing techniques remain valuable for investigating complex congenital conditions.